ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.538del (p.Thr179_Leu180insTer)

dbSNP: rs1554333636
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499989 SCV000596396 pathogenic Rhizomelic chondrodysplasia punctata type 1 2016-10-10 criteria provided, single submitter clinical testing

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